G21W (p.Gly21Trp) variant of PRKCH (Protein kinase C eta type)
G21W (p.Gly21Trp) in PRKCH (Protein kinase C eta type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G21W (p.Gly21Trp) variant details
- p.Gly21Trp
- gnomAD 14-61322162-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.67
- MetaLR 0.08
- MetaSVM -1.10
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available